1,720,961 research outputs found
Diagnostic work-up and therapeutic options in management of pediatric status epilepticus
No full textBACKGROUND:
Status epilepticus (SE) is a life-threatening neurologic disorder comprising prolonged and unremitting crisis, and two or more series of seizures without complete intercritical recovery.
DATA SOURCES:
We reviewed the literature through a Pubmed/Medline research using key words including status epilepticus, antiepileptic drugs and children, in order to revise and compare international/national protocols and to examine pediatric guidelines in SE management.
RESULTS:
Neurologic impairment and SE etiology seem to be the most independent risks for mortality. A deep semiologic evaluation is essential to addressing diagnostic work-up. Ematochemical parameters, plasma levels of antiepileptic drugs and clinically oriented toxic/metabolic screening should be mandatory for investigating both causes and effects of SE. Electroencephalography is clearly helpful to characterize focal from generalized SE and to distinguish epileptic events from pseudoseizures, and it is deal to find nonconvulsive SE. Neuroimaging techniques could detect epileptogenic lesions (such as cortical malformations, tumors, demyelinating disorders or strokes) but are common in practice to find negative or controversial results. Pharmacologic management can be essentially arranged in three stages: benzodiazepines for early SE (lasting less than 30 minutes), phenytoin/fosphenytoin, phenobarbital, valproate, levetiracetam or lacosamide for established SE (30-90 minutes), and anesthetics for refractory SE (more than 90 minutes).
CONCLUSIONS:
Status epilepticus is the most common neurologic emergency in childhood. A systematic diagnostic work-up and a three steps based therapeutic approach is required at this age
SEVERE SELF-INJURIOUS BEHAVIORS AS MAIN CLINICAL MANIFESTATION OF A NEW FORM OF CEREBRAL FOLATE DEFICIENCY
No full textIntroduction: Cerebral Folate Deficiency (CFD) is a severe neurometabolic encephalopathy associated with low levels of 5-methyltetrahydrofolate (5MTHF) in cerebrospinal fluid (CSF) and normal systemic folate metabolism. We report on a new clinical variant of CFD. Case report: A 6 years old male with intellectual disability, hypotonia, acquired microcephaly and without epilepsy and autistic features came to our attention because of severe recurrent self-injuring behaviors (SIBs) (hitting his head by hands or feet with a rapid, stereotyped, compulsive limb movements), which were triggered by selective environmental changes or frustrating novelties. MRI was normal. He had a low cerebrospinal fluid (CSF) concentration of 5-methyltetrahydrofolate (5MTHF), increased CSF biopterin and normal values of peripheral blood folate. Mutations in Folate receptor 1 gene and the production of folate receptor blocking/binding autoantibodies were excluded. MTHFR gene sequencing and DHPR enzyme activity were normal. Lesch Nyhann, Rett and Angelman syndromes were excluded. Folate supplementation restored almost completely CSF folate without influencing either biopterin and biogenic amine concentrations or SIBs. Conclusions: Developmental delay, mental disability, acquired microcephaly, severe SIBs and undetectable 5MTHF in CSF with remarkable increase of biopterin are all hallmarks of this new condition associated to CFD. Epilepsy and autism spectrum disorder are notably absent
A new form of cerebral folate deficiency with severe self-injurious behaviour
No full text[No abstract available
GLUT1 DEFICIENCY: A MILD PHENOTYPE IN A 4 YEARS OLD FEMALE WITH EARLY ONSET ABSENCES AND ATAXIA
No full textIntroduction: Glucose (GLUT1) transporter 1 deficiency (OMIM 606777) is a polymorphic syndrome including an epileptic encephalopathy, early onset absences, complex movement disorders and developmental delay. Case report: We present the case of a 4 year old female with episodes of recurrent staring since the age of 3 months and fluctuating ataxic gait when awakening since the age of 2 years and 6 months. Symptoms were exacerbated at awakening and with fasting. Psychomotor development was only mildly impaired. Electroencephalogram evidenced diffuse epileptiform discharges with the prominent involvement of the anterior regions. Seizures have been well controlled with valproic acid. Brain MRI was negative. Lumbar puncture showed a CSF/blood glucose ratio of 0,28.Molecular investigation on SLC2A1 gene revelaed a heterozygosis for the mutation c.274 C>T (p.Arg92Trp). Discussion: GLUT1 deficiency have an expanding phenotype. Our experience evidences that the pattern of GLUT 1 deficiency includes different ranges of clinical severity. This is probably due to differences in the functional impairment of the transporter
TRANSDERMAL ROTIGOTINE AS A COMEDICATION IN THE TREATMENT OF CONGENITAL DISORDERS OF BIOGENIC AMINE
No full textBackground: Rotigotine is a novel non-ergot dopamine agonist, with effects on the biogenic amine neurotransmissions. For this reason we have used transdermal rotigotine in three congenital disorders of these neurotransmitters: Aromatic L-Aminoacid decarboxylase (AADC) deficiency (OMIM # 608643), Tyrosine hydroxilase (TH) deficiency (OMIM # 191290) and Dopamine transporter (DT) deficiency (OMIM # 126455). Case Report: In a 11 years old boy with AADC the replacement of pergolide with transdermal rotigotine resulted in an improvement of trunkal stability, head control and motor planning. A faster and more autonomous walking without support, a faster execution of motor tasks and an increase of muscular strength were observed. A similar improvement was also observed in a 15 years old male with TH deficiency. In this case the benefits were transitory and after some weeks a severe bradykinesia was observed. The discontinuation of rotigotine and its replacement with levo-dopa removed this last side effect. In a 4 years, 7 months old boy with a DT deficiency no clinical effects were obtained while bradykinesia , somnolence and asthenia. Conclusions: our experience suggests that transdermal rotigotine is a promising treatment in the therapeutic management of AADC deficiency. No results have been obtained in TH and DT deficiency
EARLY ONSET PARKINSONISM: A NEW CLINICAL AND BIOCHEMICAL PHENOTYPE
No full textA growing number of metabolic and degenerative diseases results in infantile parkinsonism. We report on a new clinical and biochemical phenotype so far not associated to any known aetiology. This 5-year-old child was born from non-consanguineous Italian parents after uneventful pregnancy and normal delivery. Psychomotor development was normal up to 4 months, when minimal tremor, upper limb dystonia and rigidity were detected. At 8 months neurological deterioration occurred associated with limb jerks, generalised hypokinesia/dystonia, and akinetic mutism. CSF examination disclosed low homovanillic acid (HVA) (185.5 nmol/L, r.v. 295-932), neopterin (7.8 nmol/L, r.v. 12-30), and biopterin (5.5 nmol/L, r.v. 15-40). TH and of GCH1 geneswere both normal. L-Dopa/Carbidopa treatment resulted in a partial clinical improvement. From the age of 4, diurnal fluctuations of symptoms and severe on/off phenomena required a progressive increase of L-Dopa/Carbidopa posology. Social interaction and language comprehension remained relatively spared. A further decline of HVA (77 nmol/L; r.v. 211-871) was found in CSF. SR, PTPS, GFRP genes sequences, and Array-CGH did not detect any alterations. Repeated Brain MRI and 1 H-MRS as well as an extensive neurogenetic and neurometabolic work-up were all normal. Dopamino-mimetic/synergic drugs (Selegilina, Tolcapone, Rotigotina, Pramipexole) proved to be ineffective
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment
No full textMalonyl-CoA decarboxylase deficiency (MLYCD) is a rare autosomal recessive inborn error of metabolism presenting a variable clinical phenotype. We report an affected Italian male receiving an early diagnosis (8days after birth) and a timely dietary therapy (high carbohydrate, low long chain fatty acid and medium chain triglyceride supplemented diet with l-carnitine supplementation). The boy was born at term and presented normal function of the heart (except for a tricuspid Ebstein-like dysplasia) and neurodevelopmental status. Genomic sequencing of MLYCD gene revealed two point mutations (c.672G>A, c.869C>T) not listed in the Human MLYCD Allelic Variant Database nor in Human Gene Mutation Database, responsible for a deleterious effect on protein structure and function according to a computational analysis (MuPro, SIFT, ConSEQ v1.1). At the age of 2years he only showed a mild language and psychomotor delay, while heart functioning became normal. Brain MRI examination was normal. Thirty-five cases, including our patient, have been described to date. This is the first report concerning a malonic aciduria patient diagnosed on newborn screening and treated in a presymptomatic stage of the disease
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
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